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Von Hippel Lindau disease (VHL) is a rare1,,2 autosomal dominant disorder. Descriptions of the ophthalmic pathology predate identification of the underlying molecular genetic basis of the disease. We present a case where provisional diagnosis was made on the basis of clinical findings and histopathology, in whom classic clinical features and the genotypic subtype have now been demonstrated.
A 7 year old boy presented with a visual acuity of 6/60 in the left eye and 6/5 in the right. Examination revealed a left optic disc capillary haemangioblastoma associated with macula oedema (fig 1A⇓ and B). The right eye was healthy. No treatment was offered since the lesion involved the optic nerve. Family history was unremarkable and no systemic abnormalities were found. A provisional diagnosis of VHL was made.
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